Canonical Allele Identifier: CA016354

Gene: MYH7

Linked Data

• ClinVar Variation Id: 181366
• ClinVar RCV Id: RCV000158834
• dbSNP Id: rs730880892
• MyVariant Identifiers: chr14:g.23883099del (hg19) ; chr14:g.23413890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23413891del , CM000676.2:g.23413891del	GRCh38
NC_000014.8:g.23883100del , CM000676.1:g.23883100del	GRCh37
NC_000014.7:g.22952940del	NCBI36
NG_007884.1:g.26772del , LRG_384:g.26772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5659del MANE Select	ENSP00000347507.3:p.Glu1887SerfsTer?
ENST00000355349.3:c.5659del	ENSP00000347507.3:p.Glu1887SerfsTer?
NM_000257.3:c.5659del	NP_000248.2:p.Glu1887SerfsTer?
XM_017021340.1:c.5659del	XP_016876829.1:p.Glu1887SerfsTer?
NM_000257.4:c.5659del MANE Select	NP_000248.2:p.Glu1887SerfsTer?